Maria V. Vorontsova

The present article describes a rare case of pregnancy in a woman with the salt-wasting form of congenital adrenal hyperplasia, 21-hydroxilase deficiency. The patient had been undergoing long-term glucocorticoid and mineralocorticoid therapy. The clinical profile included pronounced hyperandrogenism, a markedly burdened gynecological history, and longstanding infertility. Despite both partners being confirmed heterozygous carriers of pathogenic variants in the CYP21A2 gene, spontaneous conception occurred. The pregnancy was closely monitored and managed by a multidisciplinary team, with individualized adjustment of hormone therapy in accordance with gestational requirements. The antenatal course was uneventful, and at 38 weeks of gestation, an elective cesarean section was performed, resulting in the delivery of a healthy, full-term female neonate. Postnatal genetic testing revealed heterozygous carrier status without phenotypic manifestations of the disease. This clinical case highlights the potential for successful reproductive outcomes in women with severe forms of congenital adrenal hyperplasia, given timely diagnosis, long-term follow-up, and personalized therapeutic strategies. Furthermore, the report underscores the ethical dimensions of reproductive autonomy and parental decision-making in the context of rare autosomal recessive disorders.

Growth hormone (GH) and insulin-like growth factor-1 (IGF-1) are pivotal hormones regulating not only postnatal growth, development, aging, and longevity but also female reproductive function. In clinical practice, GH is widely utilized as an ad juvant therapy to enhance various clinical outcomes in assisted reproductive technology (ART). It is aimed at increasing the yield and quality of oocytes and embryos, as well as improving pregnancy and live birth rates both in the general population and among patients with GH deficiency. Over the past three decades, the roles of GH and IGF-1 in regulating female repro duction have garnered increasing attention, becoming a major focus of research in both endocrinology and reproductive medicine.

The clinical practice guidelines for congenital adrenal hyperplasia (CAH) in children clearly and systematically present the key information on the epidemiology, etiology, pathogenesis, and diagnostic methods for all forms of the disease. Protocols for glucocorticoid and mineralocorticoid replacement therapy, as well as follow-up regimens for patients in different age groups, are provided. These clinical guidelines were developed and approved by the expert community of pediatric endocrinologists from the Russian Association of Endocrinologists and endorsed by the council of the Russian Federation Ministry of Health. The guidelines are based on systematic reviews, meta-analyses, original articles, and scientific studies on this pathology conducted in the Russian Federation and other countries. This article provides updated author comments and clarifications on the most critical aspects of the diagnosis and treatment of congenital adrenal hyperplasia in childhood.

Congenital Adrenal Hyperplasia (CAH) is a group of diseases with an autosomal recessive inheritance pattern, which are caused by a defect in the enzymes involved in steroidogenesis in the adrenal cortex. Depending on the enzyme block variant, the spectrum of clinical manifestations of CAH varies from mild symptoms to potentially fatal disorders. The review provides a detailed analysis of the six main forms of CAH (lipoid hyperplasia, HSD3B2, CYP17A1, CYP21A2, CYP11B1, POR) with an in-depth description of their molecular basis, pathogenesis, and clinical and laboratory manifestations. Particular attention is paid to modern methods of genetic diagnosis of CAH, including analysis of the highly homologous CYP21A2 locus, prenatal and preimplantation diagnosis. Not only modern approaches to replacement therapy are described in detail, but also promising methods of treatment: corticotropin-releasing hormone receptor antagonists, gene- and cellbased technologies. The study's strength lies in its comprehensive analysis of the disease, spanning fundamental research to practical patient management, as applied to the realities of clinical practice in Russia.

Neonatal screening for congenital adrenal hyperplasia (CAH) has been conducted in Russia since 2006. An analysis of results from 2015–2025, covering 15,546,274 newborns, identified 1,871 children with classic forms of 21-hydroxylase deficiency. The average detection rate was 1:8,309 (0.012% or 1,20 per 10 000 per year) with annual variations ranging from 1.03 to 1.48 per 10,000 newborns per year. Significant interregional variability in incidence was observed, with the highest rates recorded in the Karachay-Cherkess Republic (6.16/10,000 per year), Leningrad Oblast (4.04/10,000 per year), and Primorsky Krai (3.07/10,000 per year). Among federal districts, the Urals Federal District ranked highest. The timing of diagnosis leads to critical differences in outcomes, including the risk for adrenal crisis. Newborn screening confirms its high efficiency, and the identified regional variations underscore the need for further population genetic studies to optimize medical genetic counseling.

The aim : was to investigate the dynamics of the IFN-γ/IL-10 ratio during the intensive phase of chemotherapy in patients with pulmonary tuberculosis. Materials and methods . The study group is represented by 100 patients suffering from pulmonary tuberculosis (newly diagnosed pulmonary tuberculosis — 60 people, chronic pulmonary tuberculosis — 40 people). Serum cytokine concentrations were determined by enzyme-linked immunosorbent assay. Results and discussion . It was found that in the case of the «effective» intensive phase of chemotherapy in patients with pulmonary tuberculosis, the ratio IFN-γ/IL-10 tended to increase from 0.183±0,01 to 0.233±0,02, and in the case of the «ineffective» phase of chemotherapy, this ratio tended to decrease from 0.3±0,015 to 0.2±0,011. Conclusion . The ratio of IFN-γ/IL-10 during the intensive phase of chemotherapy in patients with pulmonary tuberculosis can be used as an additional marker of the effectiveness of chemotherapy in patients with pulmonary tuberculosis.

Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders characterized by defects in enzymes critical for steroidogenesis, with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene being the most prevalent form.Since the introduction of replacement therapy and neonatal screening programs in the 1950s, there has been a significant increase in survival rates among newborns diagnosed with CAH. However, despite these advancements, mortality associated with this condition remains disproportionately high. Achieving optimal therapeutic compensation through medication remains a complex challenge, contributing to a range of long-term complications. These complications stem from both the underlying disease and its treatment, impacting key physiological functions, including metabolism, growth and development, cardiovascular health, and fertility. These multifaceted outcomes underscore the need for ongoing research and the refinement of therapeutic approaches to better manage this intricate condition. This article presents a series of four clinical cases of CAH characterized by the absence of sustained compensation for glucoand mineralocorticoid deficiencies. These cases were further complicated by the development of large adrenal masses and ectopic testicular adrenal rest tissue (TART), emphasizing the challenges in achieving long-term disease management.

Continuous renewal of body tissues is the key to maintaining the constancy of their function throughout a person’s life. Irreversible fading of tissue renewal processes over time underlies the development of age-associated diseases and determines the aging process. In addition, the development of socially significant diseases such as metabolic syndrome, type 2 diabetes, osteoporosis and many others is associated with the impaired tissue renewal. Postnatal stem cells play a decisive role in the process of tissue renewal and their adaptation to changing conditions. At the same time, a constant balance is maintained between the rate of cell growth and death throughout life. Disruption of this balance can lead to the development of both degenerative processes and oncological diseases. Therefore, the activity of stem cells is placed under strict control of the nervous and endocrine systems of the body. Despite the wide range of hormones and neurotransmitters acting on stem cells, the spectrum of intracellular signals that transmit information is extremely limited. Universal systems of second messengers generate unique cellular responses to different stimuli using specialized systems of signal tuning and modulation. One of the second messengers that ensure the transmission of intracellular signals is cyclic AMP synthesized by adenylate cyclase. This signaling pathway includes G protein-coupled receptors (GPCRs), various isoforms of adenyl cyclases, as well as a wide range of scaffold and effector proteins. Working together, they ensure focusing of the cAMP signal and implement programs either to maintain stemness or, conversely, to trigger differentiation in various directions. The aim of our review is to provide a comprehensive view on the organization and compartmentalization of cAMP signaling in stem cells, as well as its participation in the regulation of the processes of maintaining the stemness and inducing differentiation in various directions.

The key processes determining cell differentiation are the synthesis of new proteins and restructuring of the extracellular matrix. The production of matrix and cytosolic proteins, in turn, requires the constant involvement of the heat shock protein system — chaperones that ensure the proper folding of newly synthesized protein molecules and maintain their functional state. The aim of this study was to evaluate the effect of the heat shock protein inducer geranylgeranylacetone (GGA) on the differentiation of human mesenchymal stem cells. The study found that pretreating cells with GGA for 24 hours altered the pattern of calcium responses to the pro- osteogenic stimulus, parathyroid hormone. There was an increase in the number of cells responding to anti- osteogenic calcium oscillations associated with a decrease in the osteogenic potential of MSCs. Induction of osteogenic differentiation demonstrated a decrease in calcium deposition and and gene expression. However, the addition of GGA had no significant effect on adipogenic differentiation. In search of a possible anti- osteogenic mechanism for the action of GGA, we analyzed the MSC proteomes treated with GGA or DMSO as controls. We found that incubation with GGA resulted in the absence of several proteins. Among these, calmodulin proteins (CALM1, CALM2, and CALM3), coactivators of adenylate cyclases, and proteins that regulate the actin cytoskeleton play a key role in osteogenesis. Thus, we demonstrated that the effect of GGA leads to a significant reduction in the capacity of MSCs for osteogenic, but not adipogenic, differentiation. A more detailed study of the mechanism of GGA action on embryonic and postnatal stem cells will further elucidate key features of the formation of new osteoblasts during embryogenesis and postnatal tissue renewal.